List of variants in gene CRB1 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.484G>A (p.Val162Met)	rs137853138	0.00106
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	rs137853137	0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	rs62645748	0.00013
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)	rs62636275	0.00003
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)	rs62635656	0.00001
NM_201253.3(CRB1):c.2983G>T (p.Glu995Ter)	rs62635655
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)	rs62635659
NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg)	rs62636291
NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter)	rs137853136
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)	rs281865175
NM_201253.3:c.2185_2186insAluY2174_2185dup

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